A reappraisal of complete mtDNA variation in East Asian families with hearing impairment
文献类型：期刊论文
| 作者 | Yao YG[*]1,5; Salas A2; Bravi CM3; Bandelt HJ4 |
| 刊名 | HUMAN GENETICS
 |
| 出版日期 | 2006 |
| 卷号 | 119期号:5页码:505-515 |
| ISSN号 | 0340-6717 |
| 通讯作者 | yaoy3@nhlbi.nih.gov |
| 合作状况 | 其它 |
| 英文摘要 | In a number of recent studies, we summarized the obvious errors and shortcomings that can be spotted in many (if not most) mitochondrial DNA (mtDNA) data sets published in medical genetics. We have reanalyzed here the complete mtDNA genome data published in various recent reports of East Asian families with hearing impairment, using a phylogenetic approach, in order to demonstrate the persistence of lab-specific mistakes in mtDNA genome sequencing in cases where those caveats were (deliberately) neglected. A phylogenetic reappraisal of complete mtDNAs with mutation A1555G (or G11778A) indeed supports the suggested lack of association between haplogroup background and phenotypic presentation of these mutations in East Asians. In contrast, the claimed pathogenicity of mutation T1095C in Chinese families with hearing impairment seems unsupported, basically because this mutation is rather basal in the mtDNA phylogeny, being specific to haplogroup M11 in East Asia. The roles of other haplogroup specific or associated variants, such as A827G, T961C, T1005C, in East Asian subjects with aminoglycoside-induced and non-syndromic hearing loss are also unclear in view of the known mtDNA phylogeny. |
| 收录类别 | SCI |
| 原文出处 | 2006119505.pdf |
| 语种 | 英语 |
| 公开日期 | 2010-08-24 |
| 源URL | [http://159.226.149.42:8088/handle/152453/5989]  |
| 专题 | 昆明动物研究所_重大疾病机理的遗传学 昆明动物研究所_细胞与分子进化重点实验室 |
| 作者单位 | 1.Key Laboratory of Cellular and Molecular Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China 2.Unidad de Gene´ tica, Instituto de Medicina Legal, Facultad de Medicina, Universidad de Santiago de Compostela, 15782, and Centro Nacional de Genotipado (CeGen), Hospital Clı´nico Universitario, 15706, Galicia, Spain 3.Laboratorio de Gene´ tica Molecular Poblacional, Instituto Multidisciplinario de Biologı´a Celular (IMBICE), La Plata, Argentina 4.Department of Mathematics, University of Hamburg, 20146, Hamburg, Germany 5.Present address:Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bldg 10 Rm 3-5216, 9000 Rockville Pike, Bethesda, MD, 20892-1202, USA |
| 推荐引用方式 GB/T 7714 | Yao YG[*],Salas A,Bravi CM,et al. A reappraisal of complete mtDNA variation in East Asian families with hearing impairment[J]. HUMAN GENETICS,2006,119(5):505-515. |
| APA | Yao YG[*],Salas A,Bravi CM,&Bandelt HJ.(2006).A reappraisal of complete mtDNA variation in East Asian families with hearing impairment.HUMAN GENETICS,119(5),505-515. |
| MLA | Yao YG[*],et al."A reappraisal of complete mtDNA variation in East Asian families with hearing impairment".HUMAN GENETICS 119.5(2006):505-515. |
入库方式： OAI收割
来源：昆明动物研究所
浏览0
下载0
收藏0
其他版本
除非特别说明，本系统中所有内容都受版权保护，并保留所有权利。